Articles de référence

Les articles de référence sont régulièrement mis à jour par Catherine Turleau et Valérie Malan

Généralités

Mapping and Characterization of Structural Variation in 17,795 Human Genomes

Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, Layer RM, Neale BM, Salerno WJ, Reeves C, Buyske S; NHGRI Centers for Common Disease Genomics, Matise TC, Muzny DM, Zody MC, Lander ES, Dutcher SK, Stitziel NO, Hall IM

Nature. 2020 Jul;583(7814):83-89 .PMID: 32460305

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease

Eichler EE

N Engl J Med. 2019 Jul 4;381(1):64-74. PMID:31269367

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

Guillaume Huguet, Catherine Schramm, Elise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu, Jean-Baptiste Poline, Eva Loth, Roberto Toro, Gunter Schumann, Patricia Conrod, Zdenka Pausova, Celia Greenwood, Tomas Paus, Thomas Bourgeron, Sébastien Jacquemont

JAMA Psychiatry. 2018 May; 75(5): 447–457 PMCID: PMC5875373

Paediatric genomics: diagnosing rare disease in children

Wright CF, FitzPatrick DR, Firth HV

Nat Rev Genet. 2018 May;19(5):325. PMID:29456250

Genomic disorders 20 years on-mechanisms for clinical manifestations

Harel T, Lupski JR

Clin Genet. 2018 Mar;93(3):439-449. PMID:28950406

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D’Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME

Nat Genet. 2017 Jan;49(1):36-45. PMID:27841880

Rosenfeld JA, Patel A. Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies

Rosenfeld JA, Patel A

J Pediatr Genet. 2017 Mar;6(1):42-50. PMID:28180026

Copy number variants, aneuploidies, and human disease

Martin CL, Kirkpatrick BE, Ledbetter DH

Clin Perinatol. 2015 Jun;42(2):227-42, vii. PMID:26042902

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

Martin CL, Warburton D

Annu Rev Genomics Hum Genet. 2015;16:309-26. PMID:26077817

Microdeletion syndromes

Carvill GL, Mefford HC

Curr Opin Genet Dev. 2013 Jun;23(3):232-9. PMID:23664828

Human cytogenetics: 46 chromosomes, 46 years and counting

Trask BJ

Nat Rev Genet. 2002 Oct;3(10):769-78. PMID:12360235

Cohortes / études patients-témoins

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

Coe BP, Stessman HAF, Sulovari A, Geisheker MR, Bakken TE, Lake AM, Dougherty JD, Lein ES, Hormozdiari F, Bernier RA, Eichler EE

Nat Genet. 2019 Jan;51(1):106-116

Prevalence and architecture of de novo mutations in developmental disorders

Deciphering Developmental Disorders Study

Nature. 2017 Feb 23;542(7642):433-438. PMID:28135719

Large-scale discovery of novel genetic causes of developmental disorders

Deciphering Developmental Disorders Study

Nature. 2015 Mar 12;519(7542):223-8. PMID:25533962

A copy number variation map of the human genome

Zarrei M, MacDonald JR, Merico D, Scherer SW

Nat Rev Genet. 2015 Mar;16(3):172-83

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O’Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.309

Estimates of penetrance for recurrent pathogenic copy-number variations

Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG.

Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164

A copy number variation morbidity map of developmental delay

Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE

Nat Genet. 2011 Aug 14;43(9):838-46. PMID:21841781

CNVs : mécanismes de formation des anomalies chromosomiques

Mechanisms underlying structural variant formation in genomic disorders.

Carvalho CM, Lupski JR

Nat Rev Genet. 2016 Apr;17(4):224-38

Mechanisms for Complex Chromosomal Insertions

Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR

PLoS Genet. 2016 Nov 23;12(11): e1006446. PMID:27880765

Mechanisms of Chromosome Rearrangements

Weckselblatt B, Rudd MK

Trends Genet. 2015 Oct;31(10):587-599. PMID:26209074

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints

Newman S, Hermetz KE, Weckselblatt B, Rudd MK

Am J Hum Genet. 2015 Feb 5;96(2):208-20. PMID:25640679

Gene duplication: a drive for phenotypic diversity and cause of human disease

Conrad B, Antonarakis SE

Annu Rev Genomics Hum Genet. 2007;8:17-35.PMID:17386002

Modèle Two-Hits / Variabilité phénotypique

Phenotypic expansion illuminates multilocus pathogenic variation

Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR

Genet Med. 2018 Dec;20(12):1528-1537. PMID:29790871

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR

N Engl J Med. 2017 Jan 5;376(1):21-31. PMID:27959697

Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders

Finucane B, Challman TD, Martin CL, Ledbetter DH

Genet Med. 2016 Apr;18(4):302-4. PMID:26158229

Régulation de l'expression génique

Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression

Ghavi-Helm Y, Jankowski A, Meiers S, Viales RR, Korbel JO, Furlong EEM

Nat Genet. 2019 Aug;51(8):1272-1282. PMID:31308546